Incidental Mutation 'R9263:Dnajb7'
ID 702391
Institutional Source Beutler Lab
Gene Symbol Dnajb7
Ensembl Gene ENSMUSG00000047108
Gene Name DnaJ heat shock protein family (Hsp40) member B7
Synonyms 4933424H20Rik, mDj5
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9263 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 81291289-81292474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81292266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 24 (R24C)
Ref Sequence ENSEMBL: ENSMUSP00000100712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041609] [ENSMUST00000057236] [ENSMUST00000163754] [ENSMUST00000165258]
AlphaFold Q9QYI8
Predicted Effect probably benign
Transcript: ENSMUST00000041609
SMART Domains Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401

DomainStartEndE-ValueType
AMP_N 67 213 6.36e-54 SMART
Pfam:Peptidase_M24 253 366 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057236
AA Change: R24C

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100712
Gene: ENSMUSG00000047108
AA Change: R24C

DomainStartEndE-ValueType
DnaJ 2 61 1.49e-30 SMART
low complexity region 123 141 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 288 312 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163754
SMART Domains Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401

DomainStartEndE-ValueType
AMP_N 67 213 6.36e-54 SMART
Pfam:Peptidase_M24 253 481 1.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165258
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c14 T C 13: 4,113,620 (GRCm39) S51P probably damaging Het
Arhgef38 T G 3: 132,866,529 (GRCm39) K203Q Het
Cacna1d G A 14: 29,796,925 (GRCm39) R1517W probably damaging Het
Ccdc80 T A 16: 44,915,949 (GRCm39) M235K probably damaging Het
Cdc42bpg T C 19: 6,372,149 (GRCm39) S1414P probably damaging Het
Dab2ip A G 2: 35,602,891 (GRCm39) D395G probably damaging Het
Dmxl2 T C 9: 54,358,945 (GRCm39) E255G probably benign Het
Dnaja1 T A 4: 40,724,133 (GRCm39) M98K probably benign Het
Dscc1 C A 15: 54,947,505 (GRCm39) W225L probably damaging Het
Dsg2 T A 18: 20,727,223 (GRCm39) V590D probably benign Het
Epcam A G 17: 87,947,960 (GRCm39) probably benign Het
Fbn2 T C 18: 58,257,344 (GRCm39) Y341C probably damaging Het
Fry T G 5: 150,322,728 (GRCm39) L1040R probably damaging Het
Gm9639 C T 10: 77,630,828 (GRCm39) C28Y unknown Het
Hsd17b7 A G 1: 169,794,833 (GRCm39) S69P probably damaging Het
Igsf1 A G X: 48,884,191 (GRCm39) M2T possibly damaging Het
Katnip T A 7: 125,469,867 (GRCm39) D1445E probably damaging Het
Kmt2d TGCTGCTGCTGCTGCTGCTGG TG 15: 98,747,499 (GRCm39) probably null Het
Lrp5 T C 19: 3,654,190 (GRCm39) Y1079C probably damaging Het
Lrp6 T C 6: 134,457,467 (GRCm39) D779G probably damaging Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Pacsin1 A G 17: 27,923,924 (GRCm39) D106G probably damaging Het
Pcm1 T A 8: 41,732,790 (GRCm39) D682E probably benign Het
Pex6 A G 17: 47,023,231 (GRCm39) D269G probably benign Het
Rcor1 T A 12: 111,078,327 (GRCm39) V474E Het
Rdh16 A G 10: 127,649,306 (GRCm39) D254G probably benign Het
Rp1 A T 1: 4,418,675 (GRCm39) D812E probably benign Het
Rp1 A G 1: 4,419,160 (GRCm39) S651P probably benign Het
Sec16b G A 1: 157,359,748 (GRCm39) probably benign Het
Sephs2 C T 7: 126,872,122 (GRCm39) G324S probably damaging Het
Sirpb1a T C 3: 15,481,992 (GRCm39) D112G probably damaging Het
Slc25a47 C G 12: 108,820,215 (GRCm39) T73S probably benign Het
Slco4c1 A T 1: 96,799,509 (GRCm39) L109H probably damaging Het
Smc2 A G 4: 52,470,848 (GRCm39) E845G possibly damaging Het
Sstr3 G T 15: 78,423,792 (GRCm39) N318K probably damaging Het
Suz12 A G 11: 79,904,087 (GRCm39) probably benign Het
Sycp2 A G 2: 178,035,931 (GRCm39) I252T probably damaging Het
Syne3 T C 12: 104,934,415 (GRCm39) Y118C probably damaging Het
Tbx18 C A 9: 87,611,521 (GRCm39) A170S probably damaging Het
Trak2 T C 1: 58,985,481 (GRCm39) N6D probably benign Het
Ttn G A 2: 76,720,868 (GRCm39) T6852I unknown Het
Tufm A G 7: 126,088,100 (GRCm39) E201G probably damaging Het
Vwa3b C A 1: 37,099,493 (GRCm39) P236Q probably benign Het
Xirp2 A G 2: 67,345,289 (GRCm39) Y2510C possibly damaging Het
Other mutations in Dnajb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Dnajb7 APN 15 81,291,774 (GRCm39) missense probably benign 0.01
IGL01505:Dnajb7 APN 15 81,291,692 (GRCm39) missense possibly damaging 0.46
R0116:Dnajb7 UTSW 15 81,291,555 (GRCm39) missense probably benign 0.00
R1460:Dnajb7 UTSW 15 81,291,888 (GRCm39) missense probably benign 0.00
R1517:Dnajb7 UTSW 15 81,291,657 (GRCm39) missense probably damaging 0.98
R5354:Dnajb7 UTSW 15 81,292,208 (GRCm39) missense probably damaging 1.00
R6053:Dnajb7 UTSW 15 81,291,500 (GRCm39) missense probably benign 0.04
R6581:Dnajb7 UTSW 15 81,292,226 (GRCm39) missense probably damaging 1.00
R7407:Dnajb7 UTSW 15 81,291,827 (GRCm39) missense possibly damaging 0.92
R7665:Dnajb7 UTSW 15 81,291,620 (GRCm39) missense probably benign 0.00
R8158:Dnajb7 UTSW 15 81,291,600 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATCGTCGAGATGGCTTGCAC -3'
(R):5'- ACCCTCAAGTCTTTTAGCAGTGG -3'

Sequencing Primer
(F):5'- TCGAGATGGCTTGCACCTCTG -3'
(R):5'- AAATATGCCTATTTGCAGTCACTTC -3'
Posted On 2022-03-25